Suppr超能文献

遗传性造血系统恶性肿瘤易感性:克服障碍,探索机遇。

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities.

机构信息

Division of Hematology, Department of Medicine, QEII Health Sciences Centre/Dalhousie University, Halifax, NS, Canada.

Section of Hematology/Oncology, Departments of Medicine and Human Genetics, The University of Chicago, Chicago, IL, USA.

出版信息

Br J Haematol. 2021 Aug;194(4):663-676. doi: 10.1111/bjh.17247. Epub 2020 Dec 5.

Abstract

Inherited predisposition to haematopoietic malignancies, due to deleterious germline variants in a variety of genes, is an important clinical entity with implications for the health and management of patients and their family members. Unfortunately, there remain several common misconceptions in this field that can result in patients going unrecognised and/or having incomplete or improper testing including: the impression that inherited haematological malignancy syndromes are rare, that myeloid and lymphoid malignancy predisposition syndromes are mutually exclusive, and that solid tumour predisposition syndromes are unique and distinct from haematopoietic malignancy predisposition syndromes. In the present review, we challenge these ideas with our insights into germline genetic testing for these conditions with the hope that increased awareness and knowledge will overcome barriers and lead to improved diagnosis and management.

摘要

遗传易感性造血系统恶性肿瘤,由于各种基因的有害种系变异,是一个重要的临床实体,对患者及其家庭成员的健康和管理有影响。不幸的是,该领域仍存在一些常见的误解,导致患者未被识别和/或检测不完整或不适当,包括:遗传性血液恶性肿瘤综合征罕见的印象,髓系和淋巴系恶性肿瘤易感性综合征相互排斥,以及实体瘤易感性综合征与造血系统恶性肿瘤易感性综合征独特且不同。在本综述中,我们用对这些疾病的种系基因检测的见解来挑战这些观点,希望提高认识和知识将克服障碍,导致改善诊断和管理。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验